Varaico: Literature-Extracted Genetic Variants

PCDHB4

90 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 29–111UCSCCadherin-like

Cadherinaa 138–232UCSCCadherin domain

Cadherinaa 246–337UCSCCadherin domain

Cadherinaa 351–441UCSCCadherin domain

Cadherinaa 455–551UCSCCadherin domain

Cadherinaa 574–662UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 4

HGNC Alias Symbol

PCDH-BETA4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018938.4

p.L84F

c.250C>T

Surrounding Variants

1 paper

NM_018938.4

p.R78C

c.232C>T

1 paper

NM_018938.4

p.D69N

c.205G>A

1 paper

NM_018938.4

p.S67C

c.200C>G

1 paper

NM_018938.4

p.V65E

c.194T>A

1 paper

NM_018938.4

p.G52S

c.154G>A

1 paper

NM_018938.4

p.D124N

c.370G>A

1 paper

NM_018938.4

p.F43S

c.128T>C

2 papers

NM_018938.4

p.I141L

c.421A>T

1 paper

NM_018938.4

p.R26C

c.76C>T

1 paper

NM_018938.4

p.L22V

c.64T>G

2 papers

NM_018938.4

p.P147L

c.440C>T

1 paper

NM_018938.4

p.E157K

c.469G>A